Varaico: Literature-Extracted Genetic Variants

Gene:THUMPD2
Variant:p.G23S
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THUMPD2

NM_025264.5:p.G23S

Associated Papers

THUMPD2 catalyzes the N2-methylation of U6 snRNA of the spliceosome catalytic center and regulates pre-mRNA splicing and retinal degeneration.

Yang WQ et al.

Nucleic Acids Research, 2024

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."